ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003326289 SCV004032428 likely benign Rubinstein-Taybi syndrome due to CREBBP mutations 2023-01-19 criteria provided, single submitter clinical testing A previously undescribed heterozygous nucleotide sequence variant in the CREBBP gene (16-3739650-T-C) resulting in an amino acid substitution at position 1403 of the protein (p.Asp1403Gly, NM_004380) has been identified. Heterozygous missense variants have been described in patients with OMIM: 180849, Rubinstein-Taybi syndrome 1 and OMIM: 618332, Menke-Hennekam syndrome 1. This variant is not registered in gnomAD. Computational tools classify the variant as pathogenic (PolyPhen-2: 0.997, Sift: 0.0, CADD: 30). According to Sanger sequencing data, the variant is inherited from a healthy father. Based on the totality of the data, it should be considered as a likely benign variant.

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